For many children with neurodevelopmental disorders, epilepsy, and other complex neurological conditions, the diagnostic journey is long and uncertain. Approximately 40% of genetic disorders affect the nervous system, and more than 2,000 genes are linked to intellectual disability and developmental delay.
While traditional genetic testing methods like chromosomal microarray (CMA) or gene panels provide answers for some patients, these approaches miss others. Comprehensive first testing with Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) is transforming pediatric neurology by providing actionable insights that guide treatment and improve outcomes.
At the 2025 Child Neurology Society (CNS) Annual Meeting, these advances were at the forefront of scientific discussion. As an official genetic testing partner of CNS, Baylor Genetics showcased how comprehensive genomic testing is shaping clinical care by sharing new data, real-world cases, and practical genomic tools that empower clinicians.
What Baylor Genetics Shared at CNS 2025
- Educational Resources: On-demand webinars and curated content on WGS, WES, and RNA sequencing (RNAseq / transcriptomics) accelerating diagnosis and guiding decisions.
- White Paper co-developed with CNS: Utility of WGS for NDD, which reports a 40% diagnostic yield, underscoring the power of genome-first testing.
- Expert Insights: Dr. Christine Eng showed how RNAseq clarifies VUS, detects splicing variants, and provides functional insights for greater accuracy. (Pages 20 – 21)
- Satellite Symposium: We explored the growing impact of WGS in pediatric neurology, from its diagnostic utility to its role in informing treatment strategies. A multidisciplinary panel of experts demonstrated how WGS surpasses traditional testing paradigms, its integration as a first-tier diagnostic tool per current guidelines, and how real-world clinical cases, including rare and emerging conditions like ReNU syndrome, underscore the value of comprehensive genomic and transcriptomic approaches.
- Webinar: Navigating Uncertainty: Next Steps in the Diagnostics Odyssey for Pediatric Neurology This free webinar broadened a discussion on genomic testing topics to a wider CNS audience, equipping clinicians to address negative WGS/WES results and guide families closer to a diagnosis utilizing advanced tools such as RNAseq, metabolomics, and deep phenotyping.
- Research Highlights: WGS delivers high diagnostic yield in epilepsy and NDD, enables rapid diagnosis for 1 in 3 epilepsy patients, and improves variant detection. With up to 50% of neurological conditions having a genetic basis, WGS/WES outperforms traditional panels which is now being supported by growing access through biomarker testing legislation.
Partnering with CNS reflects Baylor Genetics’ mission to empower patients, healthcare providers, and partners with trusted genetic insights transforming care for children and their families.
Our neurology-focused test menu, from targeted panels including the Neurodevelopmental Disorders and Epilepsy panels to comprehensive options such as WGS and WES integrating RNAseq, mitochondrial DNA analysis, and short tandem repeat testing equips clinicians with the tools that support more answers and stronger clinical insights.
Baylor Genetics is a valued CNS Annual Partner.